Canonical Allele Identifier: PA235434
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183109
ClinVar RCV Id: RCV000161981 RCV000237472 RCV001211912 RCV001800473 RCV002336376
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala399Thr
CA023430
NM_000527.5:c.1195G>A